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REVIEW
Kiyoharu J Miyagishima, Fengyu Qiao, Steven F Stasheff, Francisco M Nadal-Nicolás
Neurofibromatosis type 1 (NF1) is an inherited autosomal dominant disorder primarily affecting children and adolescents characterized by multisystemic clinical manifestations. Mutations in neurofibromin, the protein encoded by the Nf1 tumor suppressor gene, result in dysregulation of the RAS/MAPK pathway leading to uncontrolled cell growth and migration. Neurofibromin is highly expressed in several cell lineages including melanocytes, glial cells, neurons, and Schwann cells. Individuals with NF1 possess a genetic predisposition to central nervous system neoplasms, particularly gliomas affecting the visual pathway, known as optic pathway gliomas (OPGs)...
May 9, 2024: Vision
#2
JOURNAL ARTICLE
Blake M Hauser, Yuyang Luo, Anusha Nathan, Ahmad Al-Moujahed, Demetrios G Vavvas, Jason Comander, Eric A Pierce, Emily M Place, Kinga M Bujakowska, Gaurav D Gaiha, Elizabeth J Rossin
Advances in gene sequencing technologies have accelerated the identification of genetic variants, but better tools are needed to understand which are causal of disease. This would be particularly useful in fields where gene therapy is a potential therapeutic modality for a disease-causing variant such as inherited retinal disease (IRD). Here, we apply structure-based network analysis (SBNA), which has been successfully utilized to identify variant-constrained amino acid residues in viral proteins, to identify residues that may cause IRD if subject to missense mutation...
May 27, 2024: NPJ Genomic Medicine
#3
JOURNAL ARTICLE
Sapir Shalom, Mor Hanany, Avital Eilat, Itay Chowers, Tamar Ben-Yosef, Samer Khateb, Eyal Banin, Dror Sharon
Inherited retinal diseases (IRDs) are a clinically and genetically heterogeneous group of diseases which cause visual loss due to Mendelian mutations in over 250 genes, making genetic diagnosis challenging and time-consuming. Here, we developed a new tool, CDIP (Cost-effective Deep-sequencing IRD Panel) in which a simultaneous sequencing of common mutations is performed. CDIP is based on simultaneous amplification of 47 amplicons harboring common mutations followed by next-generation sequencing (NGS). Following five rounds of calibration of NGS-based steps, CDIP was used in 740 IRD samples...
May 20, 2024: Genes
#4
JOURNAL ARTICLE
Banu Bozkurt, Ramazan Güler, Ebru Marzioğlu Özdemir, Deniz Esin, Şaban Gönül
A 6-month-old female infant with megalophthalmos was referred with the suspicion of congenital glaucoma. Refractive measurements obtained with handheld autorefractometry were -7.00 -2.00 × 90° in the right eye and -6.00 -2.00 × 100° in the left eye and ultrasonic axial lengths were 22.50 mm in both eyes. Intraocular pressures and vertical and horizontal corneal diameters of the proband were 11 mm Hg, 11 mm, and 11.50 mm in both eyes, respectively. She was diagnosed as having early-onset high myopia...
2024: Journal of Pediatric Ophthalmology and Strabismus
#5
JOURNAL ARTICLE
Jin Gwack, Namsu Kim, Joonhong Park
Numerous hereditary ophthalmic diseases display significant genetic diversity. Consequently, the utilization of gene panel sequencing allows a greater number of patients to receive a genetic diagnosis for their clinical manifestations. We investigated how to improve the yield of genetic diagnosis through additional gene panel sequencing in hereditary ophthalmic diseases. A gene panel sequencing consisting of a customized hereditary retinopathy panel or hereditary retinitis pigmentosa (RP) panel was prescribed and referred to a CAP-accredited clinical laboratory...
May 20, 2024: Current Issues in Molecular Biology
#6
COMPARATIVE STUDY
Eva D'haene, Víctor López-Soriano, Pedro Manuel Martínez-García, Soraya Kalayanamontri, Alfredo Dueñas Rey, Ana Sousa-Ortega, Silvia Naranjo, Stijn Van de Sompele, Lies Vantomme, Quinten Mahieu, Sarah Vergult, Ana Neto, José Luis Gómez-Skarmeta, Juan Ramón Martínez-Morales, Miriam Bauwens, Juan Jesús Tena, Elfride De Baere
BACKGROUND: Vision depends on the interplay between photoreceptor cells of the neural retina and the underlying retinal pigment epithelium (RPE). Most genes involved in inherited retinal diseases display specific spatiotemporal expression within these interconnected retinal components through the local recruitment of cis-regulatory elements (CREs) in 3D nuclear space. RESULTS: To understand the role of differential chromatin architecture in establishing tissue-specific expression at inherited retinal disease loci, we mapped genome-wide chromatin interactions using in situ Hi-C and H3K4me3 HiChIP on neural retina and RPE/choroid from human adult donor eyes...
May 17, 2024: Genome Biology
#7
JOURNAL ARTICLE
Sapir Shalom, Tamar Ben-Yosef, Ifat Sher, Amir Zag, Ygal Rotenstreich, Tomer Poleg, Ohad S Birk, Libe Gradstein, Miriam Ehrenberg, Iris Deitch, Eedy Mezer, Idan Hecht, Eran Pras, Dan Ramon, Samer Khateb, Dinah Zur, Hadas Newman, Rawan Kharouba, Nitza Goldenberg-Cohen, Rina Leibu, Shiri Soudry, Ido Perlman, Eyal Banin, Dror Sharon
IMPORTANCE: Data regarding the prevalence of various inherited retinal diseases (IRDs) are limited and vary across populations; moreover, nationwide prevalence studies may be limited to a specific IRD phenotype, potentially leading to inaccurate prevalence estimations. Therefore, nationwide prevalence data are needed. OBJECTIVE: To determine the prevalence of 67 IRD phenotypes in the Israeli population. DESIGN, SETTING, AND PARTICIPANTS: This cohort study collected nationwide data regarding the number of individuals affected with IRD phenotypes assessed in 10 clinical and academic centers in Israel as part of the research activity of the Israeli inherited retinal disease consortium...
May 16, 2024: JAMA Ophthalmology
#8
JOURNAL ARTICLE
Elyse M Salpeter, Ala Moshiri, Michelle Ferneding, Monica J Motta, Sangwan Park, Chrisoula Skouritakis, Sara M Thomasy
PURPOSE: Non-human primates (NHPs) are useful models for human retinal disease. Chromatic pupillometry has been proposed as a noninvasive method of identifying inherited retinal diseases (IRDs) in humans; however, standard protocols employ time-consuming dark adaptation. We utilized shortened and standard dark-adaptation protocols to compare pupillary light reflex characteristics following chromatic stimulation in rhesus macaques with achromatopsia to wild-type (WT) controls with normal retinal function...
June 1, 2023: Translational Vision Science & Technology
#9
Michelle L Brinkmeier, Su Qing Wang, Hannah Pittman, Leonard Y Cheung, Lev Prasov
UNLABELLED: Myelin regulatory factor (Myrf) is a critical transcription factor in early retinal and retinal pigment epithelial development, and human variants in MYRF are a cause for nanophthalmos. Single cell RNA sequencing (scRNAseq) was performed on Myrf conditional knockout mice ( Rx>Cre Myrf fl/fl ) at 3 developmental timepoints. Myrf was expressed specifically in the RPE, and expression was abrogated in Rx>Cre Myrf fl/fl eyes. scRNAseq analysis revealed a loss of RPE cells at all timepoints resulting from cell death...
April 29, 2024: bioRxiv
#10
Xiaoyi Li, Miloslav Sedlacek, Amurta Nath, Klaudia P Szatko, William N Grimes, Jeffrey S Diamond
UNLABELLED: Many inherited retinal diseases target photoreceptors, which transduce light into a neural signal that is processed by the downstream visual system. As photoreceptors degenerate, physiological and morphological changes to retinal synapses and circuitry reduce sensitivity and increase noise, degrading visual signal fidelity. Here, we pharmacologically targeted the first synapse in the retina in an effort to reduce circuit noise without sacrificing visual sensitivity. We tested a strategy to partially replace the neurotransmitter lost when photoreceptors die with an agonist of receptors that ON bipolars cells use to detect glutamate released from photoreceptors...
April 30, 2024: bioRxiv
#11
JOURNAL ARTICLE
Zuying Chai, Yaqing Ye, Daniel Silverman, Kasey Rose, Alana Madura, Randall R Reed, Jeannie Chen, King-Wai Yau
Congenital stationary night blindness (CSNB) is an inherited retinal disease that causes a profound loss of rod sensitivity without severe retinal degeneration. One well-studied rhodopsin point mutant, G90D-Rho, is thought to cause CSNB because of its constitutive activity in darkness causing rod desensitization. However, the nature of this constitutive activity and its precise molecular source have not been resolved for almost 30 y. In this study, we made a knock-in (KI) mouse line with a very low expression of G90D-Rho (equal in amount to ~0...
May 21, 2024: Proceedings of the National Academy of Sciences of the United States of America
#12
MULTICENTER STUDY
Rachael C Heath Jeffery, Jennifer A Thompson, Johnny Lo, Enid S Chelva, Sean Armstrong, Jose S Pulido, Rebecca Procopio, Andrea L Vincent, Lorenzo Bianco, Maurizio Battaglia Parodi, Lucia Ziccardi, Giulio Antonelli, Lucilla Barbano, João P Marques, Sara Geada, Ana L Carvalho, Wei C Tang, Choi M Chan, Camiel J F Boon, Jonathan Hensman, Ta-Ching Chen, Chien-Yu Lin, Pei-Lung Chen, Ajoy Vincent, Anupreet Tumber, Elise Heon, John R Grigg, Robyn V Jamieson, Elisa E Cornish, Benjamin M Nash, Shyamanga Borooah, Lauren N Ayton, Alexis Ceecee Britten-Jones, Thomas L Edwards, Jonathan B Ruddle, Abhishek Sharma, Rowan G Porter, Tina M Lamey, Terri L McLaren, Samuel McLenachan, Danial Roshandel, Fred K Chen
PURPOSE: To describe the clinical, electrophysiological and genetic spectrum of inherited retinal diseases associated with variants in the PRPH2 gene. METHODS: A total of 241 patients from 168 families across 15 sites in 9 countries with pathogenic or likely pathogenic variants in PRPH2 were included. Records were reviewed for age at symptom onset, visual acuity, full-field ERG, fundus colour photography, fundus autofluorescence (FAF), and SD-OCT. Images were graded into six phenotypes...
May 1, 2024: Investigative Ophthalmology & Visual Science
#13
JOURNAL ARTICLE
Yimin Wang, Tong Li, Suqin Yu, Yuanyuan Gong, Min Zhang, Yidong Wu, Wenjia Liu, Junran Sun, Jieqiong Chen, Xiaodong Sun
PURPOSE: To further explore the influence of genotype, including mutation type and structural domain, on the severity of macular atrophy, we measured the central retinal thickness (CRT) in patients with ABCA4-related retinopathy. METHODS: A total of 66 patients were included in the cohort. This was a retrospective investigation. The patients were tested using whole exon sequencing and ophthalmic exams, including slip lamp exams, best-corrected visual acuity, optical coherence tomography, fundus photo, and fundus autofluorescence...
May 13, 2024: Eye
#14
JOURNAL ARTICLE
Trong Thuan Ung, Christopher R Starr, Assylbek Zhylkibayev, Irina Saltykova, Marina Gorbatyuk
Inherited retinal degeneration (RD) constitutes a heterogeneous group of genetic retinal degenerative disorders. The molecular mechanisms underlying RD encompass a diverse spectrum of cellular signaling, with the unfolded protein response (UPR) identified as a common signaling pathway chronically activated in degenerating retinas. TRIB3 has been recognized as a key mediator of the PERK UPR arm, influencing various metabolic pathways, such as insulin signaling, lipid metabolism, and glucose homeostasis, by acting as an AKT pseudokinase that prevents the activation of the AKT → mTOR axis...
April 26, 2024: International Journal of Molecular Sciences
#15
JOURNAL ARTICLE
Yunlu Xue, Yimin Zhou, Constance L Cepko
Retinitis pigmentosa (RP) is an inherited retinal disease in which there is a loss of cone-mediated daylight vision. As there are >100 disease genes, our goal is to preserve cone vision in a disease gene-agnostic manner. Previously we showed that overexpressing TXNIP, an α-arrestin protein, prolonged cone vision in RP mouse models, using an AAV to express it only in cones. Here, we expressed different alleles of Txnip in the retinal pigmented epithelium (RPE), a support layer for cones. Our goal was to learn more of TXNIP's structure-function relationships for cone survival, as well as determine the optimal cell type expression pattern for cone survival...
May 10, 2024: ELife
#16
EDITORIAL
Sven Vilain
No abstract text is available yet for this article.
2024: Frontiers in Cell and Developmental Biology
#17
JOURNAL ARTICLE
Jan-Philipp Bodenbender, Valerio Marino, Julia Philipp, Anke Tropitzsch, Christoph Kernstock, Katarina Stingl, Melanie Kempf, Tobias B Haack, Theresia Zuleger, Pascale Mazzola, Susanne Kohl, Nicole Weisschuh, Daniele Dell'Orco, Laura Kühlewein
Our purpose was to elucidate the genotype and ophthalmological and audiological phenotype in TUBB4B-associated inherited retinal dystrophy (IRD) and sensorineural hearing loss (SNHL), and to model the effects of all possible amino acid substitutions at the hotspot codons Arg390 and Arg391. Six patients from five families with heterozygous missense variants in TUBB4B were included in this observational study. Ophthalmological testing included best-corrected visual acuity, fundus examination, optical coherence tomography, fundus autofluorescence imaging, and full-field electroretinography (ERG)...
May 8, 2024: Scientific Reports
#18
JOURNAL ARTICLE
Tetsuji Wakabayashi, Manabu Takahashi, Hiroaki Okazaki, Sachiko Okazaki, Koutaro Yokote, Hayato Tada, Masatsune Ogura, Yasushi Ishigaki, Shizuya Yamashita, Mariko Harada-Shiba
Familial hypobetalipoproteinemia (FHBL) 1 is a rare genetic disorder with an autosomal codominant mode of inheritance and is caused by defects in the apolipoprotein (apo) B (APOB) gene that disable lipoprotein formation. ApoB proteins are required for the formation of very low-density lipoproteins (VLDLs), chylomicrons, and their metabolites. VLDLs transport cholesterol and triglycerides from the liver to the peripheral tissues, whereas chylomicrons transport absorbed lipids and fat-soluble vitamins from the intestine...
May 3, 2024: Journal of Atherosclerosis and Thrombosis
#19
Saira Khanna, Bradley T Smith
PURPOSE: To describe examination and findings in a case of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) with particular focus on the ocular sequelae from diabetes. OBSERVATIONS: Neovascular glaucoma is not a common manifestation of MELAS. CONCLUSIONS AND IMPORTANCE: We present a rare case of neovascular glaucoma in a patient with MELAS with a history of diabetes, hearing loss, and macular dystrophy. MELAS should be suspected in patients with this constellation of symptoms...
June 2024: American Journal of Ophthalmology Case Reports
#20
JOURNAL ARTICLE
Leonardo Colombo, Gabriele Bonetti, Paolo Enrico Maltese, Giancarlo Iarossi, Lucia Ziccardi, Paolo Fogagnolo, Valentino De Ruvo, Vittoria Murro, Dario Giorgio, Benedetto Falsini, Giorgio Placidi, Salvatore Martella, Eleonora Galantin, Matteo Bertelli, Luca Rossetti
INTRODUCTION: Retinitis pigmentosa (RP), a heterogeneous inherited retinal disorder causing gradual vision loss, affects over 1 million people worldwide. Pathogenic variants in CNGA1 and CNGB1 genes, respectively accounting for 1% and 4% of cases, impact the cyclic nucleotide-gated channel in rod photoreceptor cells. The aim of this study is to describe and compare genotypic and clinical characteristics of a cohort of patients with CNGA1- or CNGB1-related RP and to explore potential genotype-phenotype correlations...
May 4, 2024: Ophthalmic Research
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